{"orpha":85174,"name":"Pseudodiastrophic dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85174/","orphanet_url":"https://www.orpha.net/en/disease/detail/85174","names":{"fr":{"name":"Dysplasie pseudodiastrophique","definition":"La dysplasie pseudodiastrophique est caractérisée par un nanisme rhizomélique et des pieds bots sévères, associés à des dislocations des articulations interphalangiennes proximales et du coude, une platyspondylie et une scoliose. Il a été décrit chez une dizaine de patients. Une transmission autosomique récessive st probable. La dysplasie pseudodiastrophique se distingue de la dysplasie diastrophique sur les plans clinique, radiographique, et histopathologiques. Le pied bot peut être traité par chirurgie et les contractures néonatales et la scoliose peuvent être soulagées par physiothérapie. Plusieurs patients sont mort en période néonatale ou au cours de la petite enfance."},"de":{"name":"Dysplasie, pseudodiastrophische","definition":"Die Pseudodiastrophische Dysplasie ist gekennzeichnet durch rhizomele (proximale) Verkürzung der Gliedmaßen, schwere Klumpfuß-Deformität, Dislokationen des Ellenbogengelenkes und der proximalen interphalangealen Gelenke, Platyspondylie und Skoliose. Bisher wurden etwa 10 Patienten mit vermuteter autosomal-rezessiver Vererbung beschrieben. Die Pseudodiastrophische Dysplasie unterscheidet sich klinisch, röntgenologisch und histologisch von der Diastrophischen Dysplasie (s. dort). Der Klumpfuß wird operiert, angeborene Kontrakturen und Skoliose werden durch Physiotheraphie abgemildert. Mehrere der Patienten starben in der Neonatalperiode oder als Säugling."},"es":{"name":"Displasia pseudodiastrófica","definition":"Es un trastorno caracterizado por acortamiento rizomélico de las extremidades y deformidad grave del pie zambo, en asociación con luxaciones del codo y de la articulación interfalángica proximal, platispondilia y escoliosis. Hasta la fecha, se ha descrito en unos 10 pacientes y se ha sugerido una herencia autosómica recesiva. La displasia pseudodiastrófica difiere de la displasia diastrófica en los hallazgos clínicos, radiológicos e histopatológicos. El pie zambo se puede tratar con terapia quirúrgica, y las contracturas neonatales y la escoliosis se pueden aliviar con fisioterapia. Varios de los pacientes descritos fallecieron en el período neonatal o en el periodo de lactancia."},"it":{"name":"Displasia pseudodiastrofica"},"nl":{"name":"Pseudodiastrofische dysplasie","definition":"Pseudodiastrofische dysplasie wordt gekenmerkt door rhizomele verkorting van ledematen en ernstige klompvoet, in associatie met luxaties van elleboog en proximaal interfalangeaal gewricht, platyspondylie, en scoliose. De aandoening werd beschreven bij ongeveer tien patiënten. Overerving gebeurt vermoedelijk autosomaal recessief. Pseudodiastrofische dysplasie wordt onderscheiden van diastrofische dysplasie op basis van klinische, radiografische, en histopathologische bevindingen. Klompvoet kan chirurgisch behandeld worden, en neonatale contracturen en scoliose kunnen verlicht worden door fysiotherapie. Meerdere van de gerapporteerde patiënten overleden in de neonatale periode of tijdens de zuigelingentijd."},"pt":{"name":"Displasia pseudodiastrófica"},"pl":{"name":"Dysplazja pseudodiastroficzna"},"cs":{"name":"Pseudodiastrofická dysplázie"},"uk":{"name":"Псевдодіастрофічна дисплазія","definition":"Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia (see this term) on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy."},"zh":{"name":"假性骨弯曲畸形发育不良"},"tr":{"name":"Psödodiastrofik displazi"}},"xrefs":[{"source":"OMIM","code":"264180","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.E","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"902021042"},{"source":"MONDO","code":"0009914","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535826","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432206","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9463","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93441,"name":"Primary bone dysplasia with multiple joint dislocations","classifications":[147,156,199]},{"orpha":139030,"name":"Rare developmental defect with connective tissue involvement","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"26754439[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26754439[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006243","label":"Phalangeal dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008905","label":"Rhizomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null}]}}